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A Common Cancer Risk-Associated Allele in the hTERT Locus Encodes a Dominant Negative Inhibitor of Telomerase.

PLoS Genet. 2015; 
Killedar A, Stutz MD, Sobinoff AP, Tomlinson CG, Bryan TM, Beesley J, Chenevix-Trench G, Reddel RR, Pickett HA.
Products/Services Used Details Operation
Mutagenesis Services A con- struct containing the first 480 bp of intron 4 of hTERT in a pUC57 vector (GenScript) was subcloned into pIRES-hTERT to generate pIRES-hTERT-INS1b.... Site directed mutagenesis (Agilent Technologies) was used to introduce the minor allele at rs7725218 into pUC57 intron 3 (GenScript). Get A Quote

摘要

The TERT-CLPTM1L region of chromosome 5p15.33 is a multi-cancer susceptibility locus that encodes the reverse transcriptase subunit, hTERT, of the telomerase enzyme. Numerous cancer-associated single-nucleotide polymorphisms (SNPs), including rs10069690, have been identified within the hTERT gene. The minor allele (A) at rs10069690 creates an additional splice donor site in intron 4 of hTERT, and is associated with an elevated risk of multiple cancers including breast and ovarian carcinomas. We previously demonstrated that the presence of this allele resulted in co-production of full length (FL)-hTERT and an alternatively spliced, INS1b, transcript. INS1b does not encode the reverse transcriptase domain require... More

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